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Rare myelin protein zero sequence variant in late onset CMT1B
Nizar Souayah1, W K Seltzer, Thomas H Brannagan
1Department of Neurology, Department, New Jersey Medical School, 90 Bergen Street DOC 8128, Newark, NJ 071011, USA.
Journal of the Neurological Sciences
|July 3, 2007
Summary
Mutations in Myelin protein zero (MPZ) cause demyelinating neuropathies. This study details a specific MPZ histidine-to-proline mutation linked to adult-onset sensorimotor polyneuropathy in a family.
Area of Science:
- Neurology
- Genetics
- Molecular Biology
Background:
- Myelin protein zero (MPZ) mutations are associated with demyelinating neuropathies.
- These neuropathies present with a spectrum of severity, from neonatal to adult forms.
- Understanding specific MPZ mutations aids in diagnosing and characterizing these disorders.
Purpose of the Study:
- To report a novel case series of a family with a specific MPZ mutation.
- To detail the clinical and electrodiagnostic features of this mutation.
- To assess the prevalence of this mutation in Charcot-Marie-Tooth disease patients.
Main Methods:
- Clinical examination of affected individuals.
- Electrodiagnostic studies (nerve conduction studies) to assess nerve function.
- Genetic analysis to identify MPZ mutations.
Main Results:
- A 65-year-old woman presented with slowly progressive sensorimotor polyneuropathy.
- She harbored an MPZ mutation (His-Pro substitution at codon 10).
- Affected family members showed similar clinical and electrodiagnostic findings, while one sister was unaffected.
- This specific MPZ mutation was found in 0.11% of tested Charcot-Marie-Tooth disease alleles.
Conclusions:
- The MPZ histidine-to-proline substitution at codon 10 is linked to adult-onset demyelinating sensorimotor polyneuropathy.
- Clinical presentation and severity can vary within affected families.
- This mutation is a rare but identifiable cause of peripheral neuropathy.
